| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000483 | Astigmatism | |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000541 | Detached retina | |
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| HP:0000545 | Myopia | |
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| HP:0000646 | Amblyopia | "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators] |
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| HP:0000655 | Vitreoretinal degeneration | |
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| HP:0000926 | Platyspondyly | |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001384 | Abnormality of the hip joints | |
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| HP:0001385 | Hip dysplasia | |
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| HP:0001425 | Heterogeneous | |
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| HP:0002656 | Epiphyseal dysplasia | |
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| HP:0002663 | Late ossifying epiphyses | |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002829 | Arthralgia | |
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| HP:0002857 | Genu valgum | |
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| HP:0002970 | Genu varum | |
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| HP:0002983 | Micromelia | |
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| HP:0003301 | Irregular vertebral endplates | "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:curators] |
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| HP:0003502 | Mild short stature | "A mild degree of short stature." [HPO:curators] |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0008180 | Mildly elevated creatine phosphokinase | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010582 | Irregular epiphyses | |
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| HP:0010585 | Small epiphyses | |
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| HP:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
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